Variant report

Variant	rs981982
Chromosome Location	chr11:36491389-36491390
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36484356..36487106-chr11:36488282..36491848,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1046864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10836567	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11033641	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11033644	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11033647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11033650	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11033651	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11600757	0.81[CEU][hapmap]
rs12294785	0.81[CEU][hapmap]
rs2201845	0.90[CEU][hapmap];1.00[JPT][hapmap]
rs2303439	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs331457	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs331459	0.92[ASN][1000 genomes]
rs331463	0.89[EUR][1000 genomes]
rs44883	0.91[CEU][hapmap]
rs4755453	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs502243	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5030403	1.00[JPT][hapmap]
rs5030409	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs5030437	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs5030445	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs5030470	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5030472	0.90[CEU][hapmap];1.00[JPT][hapmap]
rs5030482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5030485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5030486	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs540386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs552140	0.91[CEU][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7109169	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7111402	0.91[CEU][hapmap]
rs7127484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7927299	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs890258	0.81[CEU][hapmap]
rs981981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1046452	chr11:36460958-36503079	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36471800-36506800	Weak transcription	Gastric	stomach
2	chr11:36471800-36506800	Weak transcription	Pancreas	Pancrea
3	chr11:36473200-36505600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr11:36474800-36511000	Weak transcription	Fetal Kidney	kidney
5	chr11:36478200-36508800	Weak transcription	Fetal Brain Female	brain
6	chr11:36478400-36491600	Weak transcription	Brain Angular Gyrus	brain
7	chr11:36478600-36506400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr11:36478800-36491600	Weak transcription	Brain Anterior Caudate	brain
9	chr11:36478800-36492200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:36478800-36505400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr11:36478800-36510400	Weak transcription	Right Ventricle	heart
12	chr11:36478800-36512200	Weak transcription	Colon Smooth Muscle	Colon
13	chr11:36481800-36508600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:36484400-36492200	Weak transcription	Aorta	Aorta
15	chr11:36484400-36506800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:36484800-36491400	Weak transcription	Brain Hippocampus Middle	brain
17	chr11:36484800-36505600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr11:36485000-36499400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr11:36485600-36491600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:36485600-36501400	Weak transcription	Ovary	ovary
21	chr11:36485600-36504800	Weak transcription	Fetal Stomach	stomach
22	chr11:36485800-36491400	Weak transcription	Adipose Nuclei	Adipose
23	chr11:36485800-36506600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr11:36486000-36505600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:36487800-36499000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr11:36488000-36491800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:36488200-36491600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr11:36488200-36495200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:36488400-36496800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:36488800-36496800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:36488800-36507400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr11:36489000-36491400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr11:36489000-36491400	Weak transcription	Brain Substantia Nigra	brain
34	chr11:36489000-36492600	Enhancers	HSMM	muscle
35	chr11:36489000-36505600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr11:36489200-36492600	Enhancers	Fetal Muscle Leg	muscle
37	chr11:36489200-36495000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr11:36489200-36505400	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr11:36489200-36510600	Weak transcription	Colonic Mucosa	Colon
40	chr11:36489600-36493000	Weak transcription	HMEC	breast
41	chr11:36489600-36493200	Weak transcription	Spleen	Spleen
42	chr11:36489600-36504800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:36489800-36492400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:36489800-36492800	Enhancers	NH-A	brain
45	chr11:36489800-36493000	Weak transcription	NHEK	skin
46	chr11:36489800-36494600	Weak transcription	Fetal Intestine Small	intestine
47	chr11:36489800-36495200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:36489800-36500000	Weak transcription	Fetal Intestine Large	intestine
49	chr11:36489800-36504800	Weak transcription	Fetal Thymus	thymus
50	chr11:36490000-36492200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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